Cargando…
Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be inform...
Autores principales: | , , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069034/ https://www.ncbi.nlm.nih.gov/pubmed/24959826 http://dx.doi.org/10.1371/journal.pone.0100245 |
_version_ | 1782322495070666752 |
---|---|
author | Gómez-Seguí, Inés Sánchez-Izquierdo, Dolors Barragán, Eva Such, Esperanza Luna, Irene López-Pavía, María Ibáñez, Mariam Villamón, Eva Alonso, Carmen Martín, Iván Llop, Marta Dolz, Sandra Fuster, Óscar Montesinos, Pau Cañigral, Carolina Boluda, Blanca Salazar, Claudia Cervera, Jose Sanz, Miguel A. |
author_facet | Gómez-Seguí, Inés Sánchez-Izquierdo, Dolors Barragán, Eva Such, Esperanza Luna, Irene López-Pavía, María Ibáñez, Mariam Villamón, Eva Alonso, Carmen Martín, Iván Llop, Marta Dolz, Sandra Fuster, Óscar Montesinos, Pau Cañigral, Carolina Boluda, Blanca Salazar, Claudia Cervera, Jose Sanz, Miguel A. |
author_sort | Gómez-Seguí, Inés |
collection | PubMed |
description | Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (6%) the most frequent copy-number abnormalities (CNA). Four patients (8%) showed CNAs adjacent to the breakpoints of the translocation. We compared our results with other APL series and found that, except for dup(8q24) and del(7q33-qter), ACA were infrequent (≤3%) but most of them recurrent (70%). Interestingly, having CNA or FLT3 mutation were mutually exclusive events. Neither the number of CNA, nor any specific CNA was associated significantly with prognosis. This study has delineated recurrent abnormalities in addition to t(15;17) that may act as secondary events and could explain leukemogenesis in up to 40% of APL cases with no ACA by conventional cytogenetics. |
format | Online Article Text |
id | pubmed-4069034 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-40690342014-06-27 Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia Gómez-Seguí, Inés Sánchez-Izquierdo, Dolors Barragán, Eva Such, Esperanza Luna, Irene López-Pavía, María Ibáñez, Mariam Villamón, Eva Alonso, Carmen Martín, Iván Llop, Marta Dolz, Sandra Fuster, Óscar Montesinos, Pau Cañigral, Carolina Boluda, Blanca Salazar, Claudia Cervera, Jose Sanz, Miguel A. PLoS One Research Article Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (6%) the most frequent copy-number abnormalities (CNA). Four patients (8%) showed CNAs adjacent to the breakpoints of the translocation. We compared our results with other APL series and found that, except for dup(8q24) and del(7q33-qter), ACA were infrequent (≤3%) but most of them recurrent (70%). Interestingly, having CNA or FLT3 mutation were mutually exclusive events. Neither the number of CNA, nor any specific CNA was associated significantly with prognosis. This study has delineated recurrent abnormalities in addition to t(15;17) that may act as secondary events and could explain leukemogenesis in up to 40% of APL cases with no ACA by conventional cytogenetics. Public Library of Science 2014-06-24 /pmc/articles/PMC4069034/ /pubmed/24959826 http://dx.doi.org/10.1371/journal.pone.0100245 Text en © 2014 Gómez-Seguí et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Gómez-Seguí, Inés Sánchez-Izquierdo, Dolors Barragán, Eva Such, Esperanza Luna, Irene López-Pavía, María Ibáñez, Mariam Villamón, Eva Alonso, Carmen Martín, Iván Llop, Marta Dolz, Sandra Fuster, Óscar Montesinos, Pau Cañigral, Carolina Boluda, Blanca Salazar, Claudia Cervera, Jose Sanz, Miguel A. Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia |
title | Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia |
title_full | Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia |
title_fullStr | Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia |
title_full_unstemmed | Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia |
title_short | Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia |
title_sort | single-nucleotide polymorphism array-based karyotyping of acute promyelocytic leukemia |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069034/ https://www.ncbi.nlm.nih.gov/pubmed/24959826 http://dx.doi.org/10.1371/journal.pone.0100245 |
work_keys_str_mv | AT gomezseguiines singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT sanchezizquierdodolors singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT barraganeva singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT suchesperanza singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT lunairene singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT lopezpaviamaria singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT ibanezmariam singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT villamoneva singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT alonsocarmen singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT martinivan singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT llopmarta singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT dolzsandra singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT fusteroscar singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT montesinospau singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT canigralcarolina singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT boludablanca singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT salazarclaudia singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT cerverajose singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia AT sanzmiguela singlenucleotidepolymorphismarraybasedkaryotypingofacutepromyelocyticleukemia |